ClinVar Miner

List of variants studied for Leber congenital amaurosis by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_000180.3(GUCY2D):c.1040_1041delTT (p.Phe347Trpfs) rs763890649
NM_000554.6(CRX):c.565del (p.Ala189fs) rs1568626289
NM_022787.4(NMNAT1):c.205A>T (p.Met69Leu)
NM_201253.3(CRB1):c.1043G>A (p.Cys348Tyr) rs886039871

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